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DDG2P

Gene: SLC24A1

No list
SLC24A1 (solute carrier family 24 member 1)
EnsemblGeneIds (GRCh38): ENSG00000074621
EnsemblGeneIds (GRCh37): ENSG00000074621
OMIM: 603617, Gene2Phenotype
SLC24A1 is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

This gene has now been removed from this panel as this gene no longer exists with a disease association on the DD panel of Gene2Phenotype resource
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D, OMIM:613830 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:20850105).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D, OMIM:613830

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible.
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • DD-Gene2Phenotype
Phenotypes
  • NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D 613830
Tags
curated_removed
OMIM
603617
Clinvar variants
Variants in SLC24A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 0

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag curated_removed tag was added to gene: SLC24A1.

13 Feb 2026, Gel status: 0

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Removed was added to SLC24A1. Rating Changed from Red List (low evidence) to No List (delete)

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: SLC24A1 was added gene: SLC24A1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SLC24A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC24A1 were set to 20850105 Phenotypes for gene: SLC24A1 were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D 613830